Golgi Autoantigen, Golgin Subfamily A, 2

Alternative Names

  • GOLGA2
  • Golgin 95
  • GM130
Back to search Result
OMIM Number

602580

Gene Map Locus
9q34.11

Description

The Golgi Apparatus is a membrane bound cell organelle that is involved in the modifying, sorting, and packaging of proteins for secretion.  The GM130 protein, encoded by the GOLGA2 gene, is an important component of this organelle and plays a key role in maintaining its structure.  The protein acts as a vesicle tether and helps with the fusion of the vesicle at the Golgi membrane.  It is also involved in mitotic Golgi disassembly, spindle pole assembly, centrosome organization, Golgi ribbon formation, and glycosylation of membrane and secretory proteins.  Deficiency of the GOLGA 2 protein can thus negatively affect the Golgi Apparatus, resulting in its fragmentation.

Molecular Genetics

The GOLGA2 gene is located on the long arm of chromosome 9.  It is 20 kb long and its coding sequence is made up of 27 exons.  The protein encoded by this gene is made up of 1002 amino acids and has a mass of 113 kDa.  Alternative splicing of the gene transcript results in an additional isoform of the GOLGA2 protein.  This isoform is made up of 620 amino acids and has a mass of 70 kDa. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001366244.2:c.1675_1676insACCGSaudi ArabiaNC_000009.12:g.128260547_128260548insCGGTLikely PathogenicGOLGA2 Associated Neurodevelopmental DisorderNM_001366244.2:c.1675_1676insACCG; NP_001353173.2:p.Arg559HisfsTer21

Other Reports

Saudi Arabia

Shamseldin et al. (2016) studied a 10.5-month-old girl suffering from a multi-system disorder.  The child was born to healthy, double first cousin parents after two previous miscarriages.  The patient’s symptoms included infantile spasms, hypotonia, progressive microcephaly, strabismus, a thin corpus callosum, muscular dystrophy, and an inability to thrive.  Whole exome sequencing helped uncover a homozygous 4 bp deletion in the GOLGA2 gene (c.1266_1269del, p.Glu423Argfs*6).  Immunoblotting tests failed to detect the GOLGA2 protein, indicating that the mutation results in a complete loss of GOLGA2.  Knockdown of the GOLGA2 gene in zebrafish led to skeletal defects, muscle dysfunction and microcephaly.  Overexpressing the human GOLGA2 mRNA led to a significant rescue of muscle and brain abnormalities in mutant zebrafish.  This helped support the theory that the loss of GOLGA2 in humans could result in severe phenotypes.  However, the authors stated that more studies were required to confirm this association. 

© CAGS 2024. All rights reserved.